NSG 533 Exam 2 Questions And
Answers
Autosomal recessive - ANSWER -- requires presence of 2 copies of a gene
mutation in order to express phenotype
- usually seen in a single generation
- mothers/fathers equally likely to transmit or inherit disorder
X-linked dominant - ANSWER -- dominant d...
, Deletion - ANSWER -type of chromosomal mutation in which there is an absence
of a segment of DNA (single base or entire gene)
Duplication - ANSWER -type of chromosomal mutation in which there is a
presence of an extra segment of DNA (redundant copies)
Inversion - ANSWER -type of chromosomal mutation in which a segment of
chromosome is inverted and reinserted in the chromosome at the breakage site
Balanced inversion - ANSWER -no net loss/gain of genetic chromosomal material
(no phenotypic abnormalities)
Unbalanced inversion - ANSWER -loss/gain of chromosomal material (will see
abnormal phenotype)
Substitution - ANSWER -type of chromosomal mutation in which there is an
exchange of one base for another
Translocation - ANSWER -type of chromosomal mutation in which a segment or
whole chromosome becomes attached with another chromosome
Balanced translocation - ANSWER -no net gain/loss of genetic material (no
phenotypic abnormalities)
Unbalanced translocation - ANSWER -gain/loss of genetic material (does show
phenotypic abnormality)
Genetics - ANSWER -study of inherited traits and their variation (individual)
Genome - ANSWER -total genetic composition of an organism or species (group)
Genomics - ANSWER -molecular analysis of the entire genome of a species
Gene - ANSWER -basic unit of heredity
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